Variant report

Variant	rs241369
Chromosome Location	chr16:74775015-74775016
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74774896..74778280-chr16:74780880..74783972,4	MCF-7	breast:
2	chr16:74771379..74775079-chr16:74776185..74779288,5	MCF-7	breast:
3	chr16:74772348..74775315-chr16:74779587..74782005,2	K562	blood:

Variant related genes	Relation type
ENSG00000263661	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11863778	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240256	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61098432	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564163	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73614684	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73614686	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73614696	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1061948	chr16:74660609-74882915	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
5	nsv542957	chr16:74660609-74882915	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
6	nsv906906	chr16:74664743-74805668	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv906907	chr16:74702254-74785902	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
9	nsv517513	chr16:74743736-74812676	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
10	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
13	nsv457520	chr16:74758984-74907440	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	nsv572976	chr16:74758984-74907440	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74763200-74779000	Weak transcription	Right Atrium	heart
2	chr16:74764000-74781800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:74764400-74776000	Weak transcription	Spleen	Spleen
4	chr16:74769200-74777000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:74769200-74783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr16:74769400-74776000	Weak transcription	Placenta	Placenta
7	chr16:74769400-74777400	Weak transcription	Fetal Lung	lung
8	chr16:74769400-74782800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:74769600-74775800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:74770400-74776000	Enhancers	Brain Angular Gyrus	brain
11	chr16:74772000-74777200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr16:74772200-74777200	Weak transcription	NHDF-Ad	bronchial
13	chr16:74772400-74775400	Weak transcription	Fetal Intestine Large	intestine
14	chr16:74772400-74777400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr16:74772400-74783400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr16:74772600-74775800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr16:74772600-74777400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:74772800-74775200	Strong transcription	Fetal Intestine Small	intestine
19	chr16:74772800-74775800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr16:74772800-74776000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:74772800-74776000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:74772800-74777400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr16:74774000-74775400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:74774000-74781800	Enhancers	Brain Hippocampus Middle	brain
25	chr16:74774200-74777000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr16:74774600-74775200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:74774600-74775200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:74774600-74775400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:74774600-74775400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:74774600-74775400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:74774600-74775400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:74774600-74775400	Enhancers	Gastric	stomach
33	chr16:74774600-74775400	Enhancers	Thymus	Thymus
34	chr16:74774600-74775400	Flanking Active TSS	A549	lung
35	chr16:74774600-74775400	Flanking Active TSS	Hela-S3	cervix
36	chr16:74774600-74775400	Flanking Active TSS	NHEK	skin
37	chr16:74774600-74776200	Enhancers	HSMMtube	muscle
38	chr16:74774600-74776400	Enhancers	Colonic Mucosa	Colon
39	chr16:74774600-74777400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr16:74774600-74777800	Enhancers	Fetal Thymus	thymus
41	chr16:74774800-74775200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:74774800-74775200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr16:74774800-74775200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr16:74774800-74775200	Bivalent Enhancer	Adipose Nuclei	Adipose
45	chr16:74774800-74775200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr16:74774800-74775200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr16:74774800-74775200	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr16:74774800-74775200	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr16:74774800-74775200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr16:74774800-74775200	Flanking Active TSS	Pancreas	Pancrea

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